Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837679A>C , CM000685.2:g.154837679A>C | GRCh38 |
| NC_000023.10:g.154065954A>C , CM000685.1:g.154065954A>C | GRCh37 |
| NC_000023.9:g.153719148A>C | NCBI36 |
| NG_011403.1:g.190045T>G | |
| NG_033065.1:g.1984T>G | |
| NG_011403.2:g.190045T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.6974T>G MANE Select | ENSP00000353393.4:p.Leu2325Arg | |
| ENST00000644698.1:c.707T>G | ENSP00000495706.1:p.Leu236Arg | |
| ENST00000330287.10:c.569T>G | ENSP00000327895.6:p.Leu190Arg | |
| ENST00000360256.8:c.6974T>G | ENSP00000353393.4:p.Leu2325Arg | |
| NM_000132.3:c.6974T>G | NP_000123.1:p.Leu2325Arg | |
| NM_019863.2:c.569T>G | NP_063916.1:p.Leu190Arg | |
| XM_011531126.1:c.6869T>G | XP_011529428.1:p.Leu2290Arg | |
| NM_000132.4:c.6974T>G MANE Select | NP_000123.1:p.Leu2325Arg | |
| NM_019863.3:c.569T>G | NP_063916.1:p.Leu190Arg |